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BRIP1

HGNC ↗

Fanconi anaemia: homozygous C-terminal truncating BRIP1 variants

1 article(s) in the watch · Constitutional genetics

Curated publications

8/10

Loss of the human BRIP1 C terminus does not cause Fanconi anemia.

Fanconi anaemia: homozygous C-terminal truncating BRIP1 variants

Gén.13 October 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.